Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 155

1.

A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.

Seeger T, Shrestha R, Lam CK, Chen C, McKeithan WL, Lau E, Wnorowski A, McMullen G, Greenhaw M, Lee J, Oikonomopoulos A, Lee S, Yang H, Mercola M, Wheeler M, Ashley EA, Yang F, Karakikes I, Wu JC.

Circulation. 2018 Oct 2. doi: 10.1161/CIRCULATIONAHA.118.034624. [Epub ahead of print]

PMID:
30586709
2.

Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy.

Lee SP, Ashley EA, Homburger J, Caleshu C, Green EM, Jacoby D, Colan SD, Arteaga-Fernández E, Day SM, Girolami F, Olivotto I, Michels M, Ho CY, Perez MV; SHaRe Investigators.

Circ Heart Fail. 2018 Sep;11(9):e005191. doi: 10.1161/CIRCHEARTFAILURE.118.005191.

PMID:
30354366
3.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.

N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.

PMID:
30304647
4.

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I.

Circulation. 2018 Oct 2;138(14):1387-1398. doi: 10.1161/CIRCULATIONAHA.117.033200. Epub 2018 Aug 23.

5.

Characteristics of undiagnosed diseases network applicants: implications for referring providers.

Walley NM, Pena LDM, Hooper SR, Cope H, Jiang YH, McConkie-Rosell A, Sanders C, Schoch K, Spillmann RC, Strong K, McCray AT, Mazur P, Esteves C, LeBlanc K; Undiagnosed Diseases Network, Wise AL, Shashi V.

BMC Health Serv Res. 2018 Aug 22;18(1):652. doi: 10.1186/s12913-018-3458-2.

6.

Cardiovascular Precision Medicine in the Genomics Era.

Dainis AM, Ashley EA.

JACC Basic Transl Sci. 2018 May 30;3(2):313-326. doi: 10.1016/j.jacbts.2018.01.003. eCollection 2018 Apr. Review.

7.

Genome Sequencing in Hypertrophic Cardiomyopathy.

Ashley EA, Reuter CM, Wheeler MT.

J Am Coll Cardiol. 2018 Jul 24;72(4):430-433. doi: 10.1016/j.jacc.2018.05.029. No abstract available.

PMID:
30025579
8.

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network, Shashi V, Pena LDM.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003046. doi: 10.1101/mcs.a003046. Print 2018 Oct.

9.

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network.

Genet Med. 2019 Jan;21(1):161-172. doi: 10.1038/s41436-018-0044-2. Epub 2018 Jun 15.

10.

Mobile Health Advances in Physical Activity, Fitness, and Atrial Fibrillation: Moving Hearts.

McConnell MV, Turakhia MP, Harrington RA, King AC, Ashley EA.

J Am Coll Cardiol. 2018 Jun 12;71(23):2691-2701. doi: 10.1016/j.jacc.2018.04.030. Review.

PMID:
29880130
11.

Apelin and APJ orchestrate complex tissue-specific control of cardiomyocyte hypertrophy and contractility in the hypertrophy-heart failure transition.

Parikh VN, Liu J, Shang C, Woods C, Chang AC, Zhao M, Charo DN, Grunwald Z, Huang Y, Seo K, Tsao PS, Bernstein D, Ruiz-Lozano P, Quertermous T, Ashley EA.

Am J Physiol Heart Circ Physiol. 2018 Aug 1;315(2):H348-H356. doi: 10.1152/ajpheart.00693.2017. Epub 2018 May 18.

PMID:
29775410
12.

Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank.

Tikkanen E, Gustafsson S, Amar D, Shcherbina A, Waggott D, Ashley EA, Ingelsson E.

Sci Rep. 2018 Apr 24;8(1):6451. doi: 10.1038/s41598-018-24735-y.

13.

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

DeBoever C, Tanigawa Y, Lindholm ME, McInnes G, Lavertu A, Ingelsson E, Chang C, Ashley EA, Bustamante CD, Daly MJ, Rivas MA.

Nat Commun. 2018 Apr 24;9(1):1612. doi: 10.1038/s41467-018-03910-9.

14.

Cardiovascular disease: The rise of the genetic risk score.

Knowles JW, Ashley EA.

PLoS Med. 2018 Mar 30;15(3):e1002546. doi: 10.1371/journal.pmed.1002546. eCollection 2018 Mar.

15.

Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.

Hu R, Morley MP, Brandimarto J, Tucker NR, Parsons VA, Zhao SD, Meder B, Katus HA, Rühle F, Stoll M, Villard E, Cambien F, Lin H, Smith NL, Felix JF, Vasan RS, van der Harst P, Newton-Cheh C, Li J, Kim CE, Hakonarson H, Hannenhalli S, Ashley EA, Moravec CS, Tang WHW, Maillet M, Molkentin JD, Ellinor PT, Margulies KB, Cappola TP.

Circ Genom Precis Med. 2018 Mar;11(3):e001901. doi: 10.1161/CIRCGEN.117.001901.

PMID:
29540468
16.

A reference equation for maximal aerobic power for treadmill and cycle ergometer exercise testing: Analysis from the FRIEND registry.

de Souza E Silva CG, Kaminsky LA, Arena R, Christle JW, Araújo CGS, Lima RM, Ashley EA, Myers J.

Eur J Prev Cardiol. 2018 May;25(7):742-750. doi: 10.1177/2047487318763958. Epub 2018 Mar 8.

PMID:
29517365
17.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT.

Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.

18.

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

Reuter CM, Brimble E, DeFilippo C, Dries AM; Undiagnosed Diseases Network, Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT.

J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11. No abstract available.

PMID:
29331327
19.

Mind the Gap: Current Challenges and Future State of Heart Failure Care.

McDonald MA, Ashley EA, Fedak PWM, Hawkins N, Januzzi JL, McMurray JJV, Parikh VN, Rao V, Svystonyuk D, Teerlink JR, Virani S.

Can J Cardiol. 2017 Nov;33(11):1434-1449. doi: 10.1016/j.cjca.2017.08.023. Epub 2017 Sep 5. Review.

PMID:
29111107
20.

Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis.

Goldfeder RL, Wall DP, Khoury MJ, Ioannidis JPA, Ashley EA.

Am J Epidemiol. 2017 Oct 15;186(8):1000-1009. doi: 10.1093/aje/kww224. Review.

Supplemental Content

Loading ...
Support Center